November 29, 2015

Bertrand got out the hospital just in time for Thanksgiving, and he's recovering rapidly in his natural habitat. Azithromycin worked!

Unfortunately, he developed an abrasion in his cornea from the forced ventilation, and that's requiring a lot of around the clock care to recover, but that too seems to be mending rapidly with Cristina's attentiveness.

We're hoping Bertrand will be well enough for school later this week.

We had a wonderful Thanksgiving with fellow NGLY1 family the Esteniks, who flew from Missouri to join us in Salt Lake and Park City!

It was one big happy family!

We're still pulling pictures off the cameras, but here's a few quick ones from last week:

Smiles all around -- and some overalls too.

Benji and Bertrand hamming it up.

Aunt Eileen made special shirts that spelled out NGLY1 - "We can solve it together!"

Uncle Carl has a real talent for making NGLY1 kids smile, laugh and reach their potential.

November 21, 2015

It took 35 liters of oxygen to stabilize his O2. ("A leafblower up his nose" is how I described it.)

Once stable, they switched him to a far gentler cpap machine and inserted an NJ feeding tube.

Gentler.

After some firm parental advocacy by Cristina, the medical team put Bertrand on azithromycin, something we'd requested since the start of the admission.

While we can't find indications of mycoplasma bacteria this time, azithromycin is also anti-inflammatory, and it has been what's pulled him out of the hospital every other time a lung infection has overwhelmed him.

Since nothing else has been working, it seems worth trying once more -- especially since the side effects are so manageable.

Except for a couple intrusions by the medical team, Bertrand slept straight through the night.

Today, I woke up to him giggling at the nurse around 5 AM.

He smiled at me, and then tried to rip his cpap mask off.

Seeing Bertrand alert and showing emotion means a lot.

While still on support, his O2, heart rate and respiration look much, much better today.

I'm keeping my fingers crossed that we can start gradually reducing his external support today or tomorrow.

November 18, 2015

Bertrand is on Day 3 of hospitalization with a severe respiratory infection.

It's become very clear having met other NGLY1 families that respiratory infections that spiral quickly are a major challenge for many of these patients. Bertrand seems to end up in the hospital about every 18 months on average with an episode like this. (Living at altitude probably doesn't help either.)

And, even though we could almost anticipate this would happen at some point and even though we've been through this before, this hospitalization has still been harder than most.

And then yesterday, Bertrand had the worst episode we've seen in years.

Luckily, the medical team was rounding and able to witness it as it unfolded.

After witnessing for 5 minutes, they promptly ordered rescue medication (Atavan), which stopped the seizure instantly. The seizure itself was close to 20 minutes by the time it stopped.

Today, Bertrand just hasn't been himself. Normally, Bertrand is alert and cheerful most days. Since getting sick, he's been largely out of it, and I think that the sideways progress is agonizing for all -- and Bertrand especially so.

Winston is done with this too.

On the other hand, we've been encouraged by the many people wishing Bertrand well from around the country and the world. And especially by Bertrand's local fan club, including visits from Aunt Gina and Aunt Karen.

The UDN is a nationwide extension of the NIH's highly successful Undiagnosed Diseases Program (UDP) to clinical and research sites around the country.

I've been working with this group of clinicians and researchers for the past year, and I can tell you that it's immensely talented and caring group. They really do want to make a difference in the lives of patients.

September 13, 2015

Rest assured that despite our silence, good things are happening. (In fact, too many good things might be the best way to describe it.)

Given the speed with which we're moving, it's important take a moment from time to time to appreciate the "little things."

I've been on the road almost continuously for many months now, but I've found myself watching this video from the past month over and over, drawing from it a kind of strength that only flows from child to parent:

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The Bertrand Might Research Fund has been established at Sanford Burnham Medical Research Institute, a 501(c)3 charitable organization. Your donation will help Dr. Hudson Freeze’s lab begin to unravel the mystery of N-Glycanase deficiency, and hopefully find a treatment in the near future.

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Now I Can is a nonprofit 501(c)(3) charitable organization dedicated to helping disabled children reach their greatest potential through intensive physical therapy. Bertrand has benefited greatly from sessions there: Oct 2011, Dec 2011, May 2012, Aug 2012. His next session will be in July 2013.

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